| Variant ID | 24824 |
|---|---|
| Entrez Gene ID | 55022 |
| Gene | PID1 (GeneCards) |
| Location | hg19 2:229911574-229911574
hg38 2:229046858-229046858 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.229911574 A>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4732 |
| CADD Raw score (version 1.3) | -0.349276 (Deleterious) |
| FATHMM raw prediction score | 0.06466 (Tolerated) |
| Deleterious probability by DeFine | 0.4793 (Neutral) |
| Entrez Gene ID | 55022 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PID1 (GeneCards) |
| Number of variants in PID1 in this database | 8 (view all the variants) |
| Full name | phosphotyrosine interaction domain containing 1 |
| Band | 2q36.3 |
| Other IDs | Vega: OTTHUMG00000133191 OMIM: 612930 HGNC: HGNC:26084 Ensembl: ENSG00000153823 |
| Other names | PCLI1, NYGGF4, P-CLI1, HMFN2073 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |